NFE2L1 NFE2 like bZIP transcription factor 1

Information
Symbol
NFE2L1
Type
protein-coding
Description
NFE2 like bZIP transcription factor 1
Entrez Gene ID
4779
Genome
hg19
Position
chr17:46,125,721-46,138,907
Genome
hg38
Position
chr17:48,048,359-48,061,545
MIM
163260 OMIM
HGNC
HGNC:7781 HGNC
Ensembl
ENSG00000082641 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 4
Uncertain significance 0 88
Ranking
ClinVar
0
0
0
92
2
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM LCR-F1
SYNONYM NRF-1
SYNONYM NRF1
SYNONYM TCF11
MIM 163260 OMIM
HGNC HGNC:7781 HGNC
Ensembl ENSG00000082641 Ensembl
AllianceGenome HGNC:7781
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000583378.5 hg38 chr17 48,054,692 48,059,936 5,245
ENST00000585291.5 hg38 chr17 48,048,363 48,061,487 13,125
ENST00000357480.9 hg38 chr17 48,048,370 48,061,479 13,110
ENST00000362042.8 hg38 chr17 48,048,359 48,061,545 13,187
ENST00000361665.7 hg38 chr17 48,048,773 48,061,480 12,708
ENST00000582155.5 hg38 chr17 48,054,675 48,059,833 5,159
ENST00000536222.5 hg38 chr17 48,054,710 48,059,653 4,944
ENST00000362042.8 hg19 chr17 46,125,721 46,138,907 13,187
ENST00000357480.9 hg19 chr17 46,125,732 46,138,841 13,110
ENST00000361665.7 hg19 chr17 46,126,135 46,138,842 12,708
ENST00000536222.5 hg19 chr17 46,132,072 46,137,015 4,944
ENST00000582155.5 hg19 chr17 46,132,037 46,137,195 5,159
ENST00000583378.5 hg19 chr17 46,132,054 46,137,298 5,245
ENST00000585291.5 hg19 chr17 46,125,725 46,138,849 13,125
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